PURPOSE: Behcet disease is a systemic disease of young adults characterized
by venous occlusion in both the deep venous and retinal circulations, In s
evere ocular disease, blindness may occur despite immunosuppressive treatme
nt. The most common inherited risk factor for the development of idiopathic
venous thrombosis is the presence of the Factor V (FV Leiden) mutation, wh
ich confers resistance to activated protein C. The association of FV Leiden
with Behcet disease has been reported, but its influence on ocular disease
is not known. We therefore investigated the prevalence of this mutation in
patients with Behcet disease to determine its contribution to the presence
and severity of ocular disease.
METHODS: One hundred and six Middle Eastern patients satisfying internation
al criteria, and 120 healthy control subjects without a history of venous t
hrombosis were included in the study, and patients underwent standard exami
nation by two ophthalmologists with an interest: in Behcet disease. Genomic
DNA was extracted from peripheral blood leukocytes and screened for the FV
Leiden mutation with the polymerase chain reaction method with sequence-sp
ecific primers (PCR-SSP).
RESULTS: FV Leiden was detected in 19% (23/120) of the control population c
ompared with 21% (29/106) of all patients with Behcet disease (P = .13). Ho
wever, among patients with Behcet disease who had ocular disease (75/106),
the prevalence of FV Leiden was significantly higher (32%) than it was in c
ontrol subjects (P = .04). Furthermore, ocular patients with Behcet disease
in whom retinal occlusive disease was observed (25/75) had the highest exp
ression of FV Leiden (44%).
CONCLUSIONS: These data suggest that FV Leiden may be an additional risk fa
ctor for the development of ocular disease and, in particular, retinal vaso
-occlusion, and it may contribute to the poor visual outcome in these patie
nts. (Am J Ophthalmol 1999;128:352-356. (C) 1999 by Elsevier Science Inc. A
ll rights reserved.)